Discovery of the Molecular Mechanism of a Genetic Mutation Causing Congenital Cataracts: A Landmark Study at the University of Tehran
Ehsan Shirkhanlo reporting from the Research Vice-Presidency News Desk of the University of Tehran: One of the university’s most recent scientific breakthroughs is a study investigating a rare genetic mutation in the Alpha-B-crystallin protein, a key element in maintaining the transparency of the eye lens. Farid Nasiri, Ph.D. graduate in Biochemistry from the University of Tehran and lead researcher of the study, explained the significance of this work:
“Until now, the pathogenic mechanism of this mutation had not been fully understood. For the first time, we demonstrated how this mutation destabilizes the protein structurally and functionally, ultimately leading to lens opacity and congenital cataract formation.”
Why Does This Research Matter Globally?
Nasiri elaborated on the findings:
“The importance of this achievement lies in the fact that, for the first time, the precise biochemical mechanism of this mutation has been clarified in the laboratory. By producing the mutated protein, we showed that this genetic change triggers abnormal aggregation (large and irregular oligomers) and a severe reduction in chaperone activity. This approach can serve as a model for investigating other genetic mutations in lens proteins and for developing new therapeutic strategies.”
From General Explanation to Expert Analysis
In clarifying the results for both general and professional audiences, Nasiri noted:
“For the general public, the lens of the eye can be compared to a transparent window, and alpha-crystallin proteins serve as its guardians. This mutation disables the guardians, causing them to clump together and block vision.”
He then added:
“From a molecular standpoint, our findings reveal that this mutation alters the dimer topology of the protein, undermining its ability to safeguard the lens proteome.”
Motivation and Research Pathway
Regarding his motivation for pursuing the project, Nasiri explained:
“Cataract is one of the leading causes of blindness. The specific mutation we studied was extremely rare, and the lack of clarity about its molecular mechanism was the primary reason I selected it for my doctoral dissertation. In addition, my personal interest in the biotechnology of recombinant proteins also influenced this choice.”
The Role of the University of Tehran and International Collaboration
Highlighting the role of the academic environment, he said:
This research was conducted at the Institute of Biochemistry and Biophysics of the University of Tehran, which has been recognized as one of the international scientific hubs for more than five decades. Studying at the University of Tehran and having the opportunity to collaborate with both national and international researchers provided the ideal foundation for this achievement.
Future Directions: From Animal Models to Genome Editing
On the future trajectory of his research, Nasiri remarked:
“The next step is to investigate this mutation in animal models and to examine the effects of environmental factors such as diabetes and sunlight exposure on lens proteins. Moreover, cutting-edge technologies such as CRISPR offer unprecedented opportunities. I hope that one day we will be able to provide a root-cause treatment for congenital cataracts using these tools.”
A Message to Students
In his closing remarks, Nasiri addressed students directly:
On the challenging path of science, never lose sight of your humanity. The competition and hardships of academia should never distance you from empathy, hope, and creativity. Ultimately, science must serve humanity.
He concluded with a reflection inspired by Albert Einstein:
“Education in a specialty is not enough; we must also cultivate moral and human values within ourselves.”

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